ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)

gnomAD frequency: 0.00003  dbSNP: rs770685785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699341 SCV000828047 likely benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2023-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533554 SCV003689737 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1238G>A (p.R413H) alteration is located in exon 8 (coding exon 8) of the LMNB2 gene. This alteration results from a G to A substitution at nucleotide position 1238, causing the arginine (R) at amino acid position 413 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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